Urea Cycle DisordersNCT02311283
Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
An observational study of Urea Cycle Disorders, run by University of South Florida at 1 site in United States.
Trial summary
The purpose of this study is to determine if patients participating in "The Longitudinal Study of Urea Cycle Disorders" are different than participants in the Urea Cycles Disorders Consortium (UCDC) Rare Diseases Clinical Research Network (RDCRN) Contact Registry and to determine if patients are a good source of… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Urea Cycle Disorders
- How many people
- 87 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2014to 1 Jul 2016
- How long will I take part?
- 1 Year
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with urea cycle disorders will be recruited via the RDCRN UCDC Contact Registry. The UCDC contact registry consists of over 300 participants with urea cycle disorders.
Who may be able to join
- Enrollment in UCDC RDCRN Contact Registry
- Patient reported diagnosis of one of the eight UCDs or UCD diagnosis highly likely/pending.
Who cannot join
- Cases of hyperammonemia caused by an organic acidemia, lysinuric protein intolerance, mitochondrial disorders, congenital lactic acidemia, fatty acid oxidation defects and primary liver disease.
- Individuals with rare and unrelated serious comorbidities, e.g., Down syndrome, intraventricular hemorrhage in the newborn period, and extreme low birth weight (<1,500 grams).
- Inability to provide informed consent and complete surveys
Trial locations and contacts
1 site in 1 country.
About this study
The purpose of this study is to determine if patients participating in "The Longitudinal Study of Urea Cycle Disorders" are different than participants in the Urea Cycles Disorders Consortium (UCDC) Rare Diseases Clinical Research Network (RDCRN) Contact Registry and to determine if patients are a good source of medical information.
Read the detailed description
Participants enrolled in the RDCRN UCDC Contact Registry will receive an email inviting them to participate in the study. Interested participants will be directed to the informed consent document. After agreeing to participate, participants will be directed to the study web portal. The study web portal will be developed and maintained by the Data Management and Coordinating Center at the University of South Florida (USF).
Participants will complete several questionnaires about their urea cycle disorder including diagnosis and treatment information and quality of life.
- Conditions
- Urea Cycle Disorders
- Medical subject headings
- Urea Cycle Disorders, Inborn
What is being measured
The primary outcome is the main question the study is designed to answer.
Test the feasibility of collecting survey data from the UCDC Contact Registry
Patient-reported survey data will be reviewed for accuracy and feasibility as a reliable data source.
Measured: Up to one year from study activation.
Assess patient reported outcomes on urea cycle relevant dimensions (applied cognition & subjective well-being).
The PROMIS website will be used to assess the accuracy and completeness of patient reported outcomes on urea cycle relevant dimensions.
Measured: Up to one year from study activation.
Validate data on treatment setting (team and organization) and management (diet, pharmacologic management, transplantation)
Patient-reported survey data will be linked with research data collected in clinic for the same patients to validate patient-reported data on treatment setting and disease management.
Measured: Up to one year from study activation.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Dec 2014 (estimated)
- Study startOct 2014
- Primary completionOct 2015
- Study completion1 Jul 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Urea Cycle DisordersStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 87 participants (actual)
- Target duration
- 1 Year
Sponsor and investigators
- Lead sponsor
- University of South Florida
- Sponsor type
- University, hospital or other
- Collaborators
- National Institutes of Health (NIH)
- Responsible party
- Sponsor
- Investigators
- Jeffrey Krischer, PhD, Study chair, University of South FloridaJennifer Seminara, MD, Principal investigator, Children's National Research InstituteVera Anastasoaie, MD, Principal investigator, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02311283
- Sponsor's protocol ID
- UCDC5112
- Status last verified
- Sep 2016
- First submitted
- 12 Sep 2014
- Last updated
- 7 Mar 2018
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Mar 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
- ClinicalTrials.gov ID
- NCT02311283
- Acronym / sponsor ID
- UCDC5112
- Conditions
- Urea Cycle Disorders
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 87 participants (actual)
- Lead sponsor
- University of South FloridaUniversity, hospital or other
- Collaborators
- National Institutes of Health (NIH)
- Study start
- Oct 2014
- Primary completion
- Oct 2015 (actual)
- Study completion
- 1 Jul 2016 (actual)
- First posted
- 8 Dec 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is to determine if patients participating in "The Longitudinal Study of Urea Cycle Disorders" are different than participants in the Urea Cycles Disorders Consortium (UCDC) Rare Diseases Clinical Research Network (RDCRN) Contact Registry and to determine if patients are a good source of medical information.
Detailed description
Participants enrolled in the RDCRN UCDC Contact Registry will receive an email inviting them to participate in the study. Interested participants will be directed to the informed consent document. After agreeing to participate, participants will be directed to the study web portal. The study web portal will be developed and maintained by the Data Management and Coordinating Center at the University of South Florida (USF).
Participants will complete several questionnaires about their urea cycle disorder including diagnosis and treatment information and quality of life.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Target follow-up
- 1 Year
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with urea cycle disorders will be recruited via the RDCRN UCDC Contact Registry. The UCDC contact registry consists of over 300 participants with urea cycle disorders.
Key inclusion criteria (2 listed)
- Enrollment in UCDC RDCRN Contact Registry
- Patient reported diagnosis of one of the eight UCDs or UCD diagnosis highly likely/pending.
Key exclusion criteria (3 listed)
- Cases of hyperammonemia caused by an organic acidemia, lysinuric protein intolerance, mitochondrial disorders, congenital lactic acidemia, fatty acid oxidation defects and primary liver disease.
- Individuals with rare and unrelated serious comorbidities, e.g., Down syndrome, intraventricular hemorrhage in the newborn period, and extreme low birth weight (<1,500 grams).
- Inability to provide informed consent and complete surveys
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Test the feasibility of collecting survey data from the UCDC Contact Registry
Time frame: Up to one year from study activation.
Patient-reported survey data will be reviewed for accuracy and feasibility as a reliable data source.
Assess patient reported outcomes on urea cycle relevant dimensions (applied cognition & subjective well-being).
Time frame: Up to one year from study activation.
The PROMIS website will be used to assess the accuracy and completeness of patient reported outcomes on urea cycle relevant dimensions.
Validate data on treatment setting (team and organization) and management (diet, pharmacologic management, transplantation)
Time frame: Up to one year from study activation.
Patient-reported survey data will be linked with research data collected in clinic for the same patients to validate patient-reported data on treatment setting and disease management.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Mar 2018.
- Rare Diseases Clinical Research Network UCDC webpageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jeffrey Krischer, PhD study chair
University of South Florida
Jennifer Seminara, MD principal investigator
Children's National Research Institute
Vera Anastasoaie, MD principal investigator
Boston Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Urea Cycle Disorders, run by University of South Florida at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 7 Mar 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Test the feasibility of collecting survey data from the UCDC Contact Registry (time frame: Up to one year from study activation.). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Mar 2018.